FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1965664324> ?p ?o ?g. }

• W1965664324 endingPage "814" @default.
• W1965664324 startingPage "814" @default.
• W1965664324 abstract "To investigate the protein expression profile of mismatch repair (MMR) genes in suspected cases of Lynch syndrome and to characterize the associated germline mutations.Immunohistochemical analysis of tumor samples was performed to determine the protein expression profile of MMR protein. Germline mutation screening was carried out on peripheral blood samples. The entire exon regions of MLH1 and MSH2 genes were amplified by polymerase chain reaction, screened by denaturing high performance liquid chromatography (dHPLC) and analyzed by DNA sequencing to characterize the germline mutations.Three out of 34 tissue samples (8.8%) and four out of 34 tissue samples (11.8%) showed loss of nuclear staining by immunohistochemistry, indicating the absence of MLH1 and MSH2 protein expression in carcinoma cells, respectively. dHPLC analysis followed by DNA sequencing showed these samples to have germline mutations of MSH2 gene. However, no deleterious mutations were identified in any of the 19 exons or coding regions of MLH1 gene, but we were able to identify MLH1 promoter polymorphism, -93G > A (rs1800734), in 21 out of 34 patients (61.8%). We identified one novel mutation, transversion mutation c.2005G > C, which resulted in a missense mutation (Gly669Arg), a transversion mutation in exon 1, c.142G > T, which resulted in a nonsense mutation (Glu48Stop) and splice-site mutation, c.2006-6T > C, which was adjacent to exon 13 of MSH2 gene.Germline mutations were identified in four Malaysian Lynch syndrome patients. Immunohistochemical analysis of tumor tissue proved to be a good pre-screening test before proceeding to germline mutation analysis of DNA MMR genes." @default.
• W1965664324 created "2016-06-24" @default.
• W1965664324 creator A5026259568 @default.
• W1965664324 creator A5027092696 @default.
• W1965664324 creator A5027516191 @default.
• W1965664324 creator A5034072237 @default.
• W1965664324 creator A5051356701 @default.
• W1965664324 creator A5086781009 @default.
• W1965664324 date "2012-01-01" @default.
• W1965664324 modified "2023-09-30" @default.
• W1965664324 title "Germline mutation analysis of<i>MLH1</i>and<i>MSH2</i>in Malaysian Lynch syndrome patients" @default.
• W1965664324 cites W1497140289 @default.
• W1965664324 cites W1499500424 @default.
• W1965664324 cites W1907599506 @default.
• W1965664324 cites W1974169318 @default.
• W1965664324 cites W1974592005 @default.
• W1965664324 cites W1976874128 @default.
• W1965664324 cites W1979483524 @default.
• W1965664324 cites W2010053675 @default.
• W1965664324 cites W2013312018 @default.
• W1965664324 cites W2027127660 @default.
• W1965664324 cites W2066919123 @default.
• W1965664324 cites W2068939856 @default.
• W1965664324 cites W2069441632 @default.
• W1965664324 cites W2084110990 @default.
• W1965664324 cites W2123078514 @default.
• W1965664324 cites W2127884528 @default.
• W1965664324 cites W2128930594 @default.
• W1965664324 cites W2139936283 @default.
• W1965664324 cites W2140259403 @default.
• W1965664324 cites W2147119810 @default.
• W1965664324 cites W2162362353 @default.
• W1965664324 cites W2168714349 @default.
• W1965664324 doi "https://doi.org/10.3748/wjg.v18.i8.814" @default.
• W1965664324 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3286145" @default.
• W1965664324 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22371642" @default.
• W1965664324 hasPublicationYear "2012" @default.
• W1965664324 type Work @default.
• W1965664324 sameAs 1965664324 @default.
• W1965664324 citedByCount "13" @default.
• W1965664324 countsByYear W19656643242012 @default.
• W1965664324 countsByYear W19656643242013 @default.
• W1965664324 countsByYear W19656643242014 @default.
• W1965664324 countsByYear W19656643242015 @default.
• W1965664324 countsByYear W19656643242017 @default.
• W1965664324 countsByYear W19656643242018 @default.
• W1965664324 countsByYear W19656643242020 @default.
• W1965664324 countsByYear W19656643242023 @default.
• W1965664324 crossrefType "journal-article" @default.
• W1965664324 hasAuthorship W1965664324A5026259568 @default.
• W1965664324 hasAuthorship W1965664324A5027092696 @default.
• W1965664324 hasAuthorship W1965664324A5027516191 @default.
• W1965664324 hasAuthorship W1965664324A5034072237 @default.
• W1965664324 hasAuthorship W1965664324A5051356701 @default.
• W1965664324 hasAuthorship W1965664324A5086781009 @default.
• W1965664324 hasBestOaLocation W19656643241 @default.
• W1965664324 hasConcept C104317684 @default.
• W1965664324 hasConcept C111425858 @default.
• W1965664324 hasConcept C134935766 @default.
• W1965664324 hasConcept C13514818 @default.
• W1965664324 hasConcept C153911025 @default.
• W1965664324 hasConcept C2776559941 @default.
• W1965664324 hasConcept C2779115348 @default.
• W1965664324 hasConcept C2994225774 @default.
• W1965664324 hasConcept C36823959 @default.
• W1965664324 hasConcept C501734568 @default.
• W1965664324 hasConcept C502942594 @default.
• W1965664324 hasConcept C54355233 @default.
• W1965664324 hasConcept C60748783 @default.
• W1965664324 hasConcept C64872895 @default.
• W1965664324 hasConcept C75563809 @default.
• W1965664324 hasConcept C86803240 @default.
• W1965664324 hasConcept C96777560 @default.
• W1965664324 hasConceptScore W1965664324C104317684 @default.
• W1965664324 hasConceptScore W1965664324C111425858 @default.
• W1965664324 hasConceptScore W1965664324C134935766 @default.
• W1965664324 hasConceptScore W1965664324C13514818 @default.
• W1965664324 hasConceptScore W1965664324C153911025 @default.
• W1965664324 hasConceptScore W1965664324C2776559941 @default.
• W1965664324 hasConceptScore W1965664324C2779115348 @default.
• W1965664324 hasConceptScore W1965664324C2994225774 @default.
• W1965664324 hasConceptScore W1965664324C36823959 @default.
• W1965664324 hasConceptScore W1965664324C501734568 @default.
• W1965664324 hasConceptScore W1965664324C502942594 @default.
• W1965664324 hasConceptScore W1965664324C54355233 @default.
• W1965664324 hasConceptScore W1965664324C60748783 @default.
• W1965664324 hasConceptScore W1965664324C64872895 @default.
• W1965664324 hasConceptScore W1965664324C75563809 @default.
• W1965664324 hasConceptScore W1965664324C86803240 @default.
• W1965664324 hasConceptScore W1965664324C96777560 @default.
• W1965664324 hasIssue "8" @default.
• W1965664324 hasLocation W19656643241 @default.
• W1965664324 hasLocation W19656643242 @default.
• W1965664324 hasLocation W19656643243 @default.
• W1965664324 hasLocation W19656643244 @default.
• W1965664324 hasOpenAccess W1965664324 @default.
• W1965664324 hasPrimaryLocation W19656643241 @default.
• W1965664324 hasRelatedWork W1965664324 @default.

• next